Author(s): Cardoso, Isabel ; Melo, Mafalda ; Brás, Pedro ; Viegas, José Miguel ; Almeida, Inês ; Nunes, Sofia ; Custódio, Inês ; Trigo, Conceição ; Laranjo, Sergio ; Graça, Rafael ; Cruz Ferreira, Rui ; Martins ; Aguiar Rosa, Sílvia ; Antunes, Diana
Date: 2025
Persistent ID: http://hdl.handle.net/10362/185649
Origin: Repositório Institucional da UNL
Subject(s): Genetics; Genotype; Metabolic cardiomyopathies; Risk stratification; Syndromic cardiomyopathies; Cardiology and Cardiovascular Medicine
Publisher Copyright: © 2025 Sociedade Portuguesa de Cardiologia
Cardiomyopathies may present as a manifestation of various inherited syndromes. Recognizing the rarity and diagnostic challenges of syndromic and metabolic cardiomyopathies is crucial, as their identification holds significant implications for targeted treatment and enables the use of specific risk stratification tools. Genetics has assumed a pivotal role in clarifying the pathophysiology of cardiomyopathies, facilitating molecular diagnosis, and enabling effective family screening. The advent of next-generation sequencing has revolutionized genetic testing, enabling cost-effective, high-throughput analyses, facilitating the diagnosis of these rare conditions, and allowing the provision of specific management and therapeutics.
